Linked Data
dbSNP Id:
rs1057516904
MyVariant Identifiers:
chr19:g.7593769dupA (hg19)
chr19:g.7593767_7593768insA (hg19)
chr19:g.7528883dupA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528883dup , CM000681.2:g.7528883dup | GRCh38 |
| NC_000019.9:g.7593769dup , CM000681.1:g.7593769dup | GRCh37 |
| NC_000019.8:g.7499769dup | NCBI36 |
| NG_015806.1:g.11274dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1047dup MANE Select | ENSP00000264079.5:p.Phe350IlefsTer? | |
| ENST00000264079.10:c.1047dup | ENSP00000264079.5:p.Phe350IlefsTer? | |
| ENST00000394321.9:n.1362dup | ||
| ENST00000595860.5:n.230dup | ||
| NM_020533.2:c.1047dup | NP_065394.1:p.Phe350IlefsTer? | |
| NM_020533.3:c.1047dup MANE Select | NP_065394.1:p.Phe350IlefsTer? |